Variant report

Variant	rs1938594
Chromosome Location	chr11:58983401-58983402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1048444	0.86[CHB][hapmap]
rs10896955	0.81[EUR][1000 genomes]
rs11229895	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2000875	0.86[CHB][hapmap]
rs3847	0.86[CHB][hapmap]
rs4939267	0.90[CHB][hapmap]
rs544864	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558573	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs621162	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115130	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58973800-58984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:58975400-58986600	Weak transcription	Gastric	stomach
3	chr11:58976000-58989400	Weak transcription	Stomach Mucosa	stomach
4	chr11:58977600-58984000	Weak transcription	Fetal Lung	lung
5	chr11:58978600-58984000	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:58979200-58989600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:58979400-58983800	Weak transcription	Fetal Stomach	stomach
8	chr11:58979800-58985200	Weak transcription	Pancreas	Pancrea
9	chr11:58980000-58984200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:58980400-58984200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:58980400-58984200	Weak transcription	Fetal Thymus	thymus
12	chr11:58980400-58984400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:58980400-58991200	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:58981000-58984000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:58981000-58984000	Enhancers	Primary B cells from cord blood	blood
16	chr11:58981000-58984200	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:58981000-58984200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:58981000-58991600	Weak transcription	Spleen	Spleen
19	chr11:58981200-58983600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:58981200-58984000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:58981600-58983600	Enhancers	GM12878-XiMat	blood
22	chr11:58982400-58983600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:58982800-58986000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:58983000-58984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr11:58983000-58984600	Enhancers	Placenta	Placenta
26	chr11:58983000-58985200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:58983200-58984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:58983200-58984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:58983200-58985000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:58983400-58983600	Enhancers	Rectal Smooth Muscle	rectum

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